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Updated: Jul 18, 2026

Quantification of Colonic Stem Cell Mutations
07:53

Quantification of Colonic Stem Cell Mutations

Published on: September 25, 2015

The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic

W Xu1, E Beutler

  • 1Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037.

The Journal of Clinical Investigation
|December 1, 1994
PubMed

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Hyperglycemia

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